Turner Syndrome Clinical Trial
Official title:
Social Cognition and Turner Syndrome
Monocentric multidisciplinary study (psychologists, endocrinologists, psychiatrists, and
molecular biologists) to characterize social cognition in adolescents with Turner syndrome
(TS).
Inclusion criteria:
- Turner syndrome with homogeneous 45,X karyotype.
- Age between 8 and 18 years.
- Somatic state compatible with the evaluation.
- Functional language and IQ ≥ 80 for the transfer tests
- Informed consent signed by the holders of parental authority, the patient and the mother
for her own participation (DNA collection).
- Affiliation to Social Security (beneficiary or assignee).
The primary endpoint will be the overall score to the AQ (Autism Quotient) questionnaire and
to the SRS (Social Reciprocity Scale), in comparison to the expected scores for the general
population. For patients with scores above the threshold for SRS or QA validation of a
possible diagnosis of autism spectrum disorders will be performed with commonly used
diagnostic tools (ADIR (Lord et al, 1994), ADOS-G (Lord et al, 1999) and diagnostic criteria
of DSM IV-TR).
Secondary criteria will include the results of standardized tests to assess autistic features
(AQ, ADI-R, ADOS, DSM IV-TR criteria), intellectual efficiency (Wechsler scales), psychiatric
comorbidities (Kiddie-SADS) and sociocognitive profile (SpeX test, Social cognition,
Perception, eXecutive functions).
A DNA sample will be collected from the patient and her mother. The observation period is 2
days for the patient and about 1 hour for the mother. The total duration of the study is 3
years.
Patients will be recruited to the study by their pediatric endocrinologist during routine
monitoring visits. They will then be contacted by phone or by mail for an appointment with
their mother for more oral and written information consisting of an information notice and
informed consent form. The recruitment of Turner syndrome patients will be based on the
Reference Centre for Rare Endocrine Growth Disorders (AP-HP, Robert Debré, Armand Trousseau
and Necker hospitals).
The parental origin of the remaining X chromosome will be analyzed using microsatellite
analysis and comparison of the profile of the patient and her mother.
Statistical analysis will be conducted under the supervision of Professor C. ALBERTI using
commonly accepted standards. All tests will be bilateral. Given the exploratory nature of the
study, a significance threshold of 10% will be used. Statistical analyzes will be performed
using SAS software V 9.2.
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